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rs121912603

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912603(C;T)
Make rs121912603(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position94283840
GenePLCE1, PLCE1-AS1
is asnp
is mentioned by
dbSNPrs121912603
dbSNP (classic)rs121912603
ClinGenrs121912603
ebirs121912603
HLIrs121912603
Exacrs121912603
Gnomadrs121912603
Varsomers121912603
LitVarrs121912603
Maprs121912603
PheGenIrs121912603
Biobankrs121912603
1000 genomesrs121912603
hgdprs121912603
ensemblrs121912603
geneviewrs121912603
scholarrs121912603
googlers121912603
pharmgkbrs121912603
gwascentralrs121912603
openSNPrs121912603
23andMers121912603
SNPshotrs121912603
SNPdbers121912603
MSV3drs121912603
GWAS Ctlgrs121912603
Max Magnitude0
OMIM608414
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912603(T;T)
Alt rs121912603(T;T)
Reference Rs121912603(C;C)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene PLCE1 PLCE1-AS1
CLNDBN Nephrotic syndrome, type 3
Reversed 0
HGVS NC_000010.10:g.96043597C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002439.3,